Table 2

Validation of the candidate deletions
ditagID1 Deletion breakpoints DelSize (bp) Notes Gene involved DGV overlap2
1_67822_2/1_67825_1 chr1:147489387-147489688 302 Heterozygote Intergenic Novel
1_110491_2/1_110494_1 chr1:232385269-232386371 1103 Homozygote SLC35F3 Variation_109897
1_110644_2/1_110647_1 chr1:232653827-232654136 310 Heterozygote TARBP1 Novel
5_79470_2/5_79473_1 chr5:172632846-172633171 326 Homozygote Intergenic Variation_46815
7_50712_2/7_50719_1 chr7:96313845-96319938 6094 Homozygote Intergenic Variation_23855
7_83664_2/7_83673_1 chr7:158193509-158197522 4014 Heterozygote Intergenic Variation_43560
8_33206_2/8_33210_1 chr8:64316994-64318575 1582 Homozygote Intergenic Novel
9_54312_2/9_54319_1 chr9:129221441-129225898 4458 Homozygote ZNF79 Variation_106098
11_33186_2/11_33189_1 chr11:67939676-67939985 310 Homozygote LRP5 Novel
12_1219_2/12_1222_1 chr12:1734274-1734588 315 Heterozygote ADIPOR2 Variation_11592
12_63591_2/12_63594_1 chr12:123274954-123275072 118 Heterozygote Intergenic Variation_11646
14_29251_2/14_29254_1 Not Validated 0 DPV3 - -
17_141_2/17_145_1 chr17:193768-197057 3290 Homozygote RPH3AL Variation_25792
17_6977_2/17_6981_1 chr17:8187338-8188694 1357 Homozygote ODF4 Variation_43957
17_47495_2/17_47501_1 chr17:71873831-71876905 3075 Heterozygote Intergenic Variation_77728
19_22244_2/19_22248_1 chr19:34642031-34648013 5983 Homozygote Intergenic Variation_43984
22_10635_2/22_10639_1 chr22:30106417-30110625 4209 Homozygote Intergenic Variation_43568
X_7293_2/X_7300_1 chrX:11635278-11641324 6047 Homozygote Intergenic Variation_22612
X_21618_2/X_21622_1 chrX:39977151-39979777 2627 Homozygote Intergenic Novel

1 An ID of a ditag from which the local structural information is inferred (Method).

2 Deletions that overlap with structural changes in the Database of Genomic Variants[5].

3 Double point variants inactivating both restriction sites.

Gong et al.

Gong et al. BMC Genomics 2013 14:51   doi:10.1186/1471-2164-14-51

Open Data